Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Overview of Lipid Metabolism01:24

Overview of Lipid Metabolism

Lipid metabolism is a crucial process in the human body that involves the synthesis and degradation of lipids. This process is essential for energy production, cell membrane formation, and hormone production, among other functions.
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
Formation of Lipopolysaccharides01:19

Formation of Lipopolysaccharides

Lipopolysaccharides (LPS) are crucial components of the outer membrane of Gram-negative bacteria, serving both structural and functional roles. It contributes to membrane stability and protects bacteria from host immune responses. LPS is composed of three major regions—lipid A, a core oligosaccharide, and an O antigen. The biosynthesis and assembly of LPS involve a highly coordinated set of enzymatic reactions and transport mechanisms. Additionally, LPS is recognized as an endotoxin, triggering...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Spatial Relationship of Maxillary Posterior Teeth with Maxillary Sinus Floor in Sagittal, Coronal and Axial Planes by Using Cone-Beam Computed Tomography in a Subpopulation of Central India.

Mymensingh medical journal : MMJ·2022
Same author

Variation in growth and evaluation of cross-protection in Listeria monocytogenes under salt and bile stress.

Journal of applied microbiology·2020
Same author

Effect of a multicomponent intervention on achievement and improvements in quality-of-care indices among people with Type 2 diabetes in South Asia: the CARRS trial.

Diabetic medicine : a journal of the British Diabetic Association·2019
Same author

Vital Signs: Health Care-Associated Legionnaires' Disease Surveillance Data From 20 States and a Large Metropolitan Area-United States, 2015.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2017
Same author

<i>De Novo</i> Collapsing Glomerulopathy in Renal Allograft in Association with BK Virus Nephropathy in a Child and Stabilization of Renal Function by Elimination of Viremia.

Indian journal of nephrology·2017
Same author

Isolation of 3α, 7α, 12α-trihydroxycoprostanic acid from baboon bile.

Lipids·2016
Same journal

Severe combined immunodeficiency (SCID) with pigmentary mosaicism: A coincidental occurrence in a child.

Indian journal of dermatology, venereology and leprology·2026
Same journal

Agminated multifocal eruptive lobular capillary haemangiomas - An uncommon presentation.

Indian journal of dermatology, venereology and leprology·2026
Same journal

Patch testing in India: Are we missing clinically relevant allergens?

Indian journal of dermatology, venereology and leprology·2026
Same journal

Double-loading technique for improved suspension retention on the recipient site in non-cultured epidermal cell suspension (NCES).

Indian journal of dermatology, venereology and leprology·2026
Same journal

Late-onset metastatic melanoma arising from a medium-sized congenital melanocytic naevus.

Indian journal of dermatology, venereology and leprology·2026
Same journal

Custom-compounded glycine-proline jelly for ulcers in prolidase deficiency.

Indian journal of dermatology, venereology and leprology·2026
See all related articles

Related Experiment Video

Updated: Jun 8, 2026

Analysis of Fluorescent-Stained Lipid Droplets with 3D Reconstruction for Hepatic Steatosis Assessment
07:12

Analysis of Fluorescent-Stained Lipid Droplets with 3D Reconstruction for Hepatic Steatosis Assessment

Published on: June 2, 2023

Lipoid proteinosis.

M K Shah1, P P Shah, R C Rawal

  • 1Department of Dermatology, BJ Medical College, Civil Hospital, Ahmedabad-16, India.

Indian Journal of Dermatology, Venereology and Leprology
|October 16, 2010
PubMed
Summary
This summary is machine-generated.

Lipoid proteinosis, a rare genetic disorder, causes hoarseness and distinctive skin lesions. This case highlights the clinical presentation and diagnostic confirmation of this condition.

More Related Videos

Evaluation of Lipid Droplet Size and Fusion in Bovine Hepatic Cells
08:37

Evaluation of Lipid Droplet Size and Fusion in Bovine Hepatic Cells

Published on: March 10, 2023

Related Experiment Videos

Last Updated: Jun 8, 2026

Analysis of Fluorescent-Stained Lipid Droplets with 3D Reconstruction for Hepatic Steatosis Assessment
07:12

Analysis of Fluorescent-Stained Lipid Droplets with 3D Reconstruction for Hepatic Steatosis Assessment

Published on: June 2, 2023

Evaluation of Lipid Droplet Size and Fusion in Bovine Hepatic Cells
08:37

Evaluation of Lipid Droplet Size and Fusion in Bovine Hepatic Cells

Published on: March 10, 2023

Area of Science:

  • Dermatology
  • Genetics
  • Ophthalmology

Background:

  • Lipoid proteinosis is an autosomal recessive disorder characterized by hyalinosis of the skin, mucous membranes, and organs.
  • It is caused by mutations in the ECM1 gene, leading to impaired extracellular matrix protein degradation.
  • The condition presents with a wide spectrum of clinical manifestations, including hoarseness, beaded eyelid papules, and facial disfigurement.

Purpose of the Study:

  • To present a case of lipoid proteinosis with typical clinical features.
  • To emphasize the importance of clinical diagnosis and histopathological confirmation.
  • To contribute to the understanding of the varied presentations of lipoid proteinosis.

Main Methods:

  • Clinical examination of a 20-year-old male with lifelong hoarseness and characteristic skin and mucosal lesions.
  • Diagnostic workup including a mucosal biopsy for histopathological analysis.

Main Results:

  • The patient exhibited hoarseness since birth, beaded papular lesions on eyelids, atrophic scars on the trunk and extremities, and yellowish infiltrated plaques on oral mucosa.
  • Histopathological examination of the mucosal biopsy confirmed the diagnosis of lipoid proteinosis, revealing characteristic hyaline deposition.

Conclusions:

  • Lipoid proteinosis can be diagnosed clinically based on characteristic mucocutaneous findings.
  • Mucosal biopsy is crucial for definitive histopathological confirmation.
  • Early diagnosis and management are important to prevent complications and improve quality of life.